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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K, Chen R. Wang F, et al. Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24. Hum Genet. 2014. PMID: 24154662 Free PMC article.
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.
Dinculescu A, Estreicher J, Zenteno JC, Aleman TS, Schwartz SB, Huang WC, Roman AJ, Sumaroka A, Li Q, Deng WT, Min SH, Chiodo VA, Neeley A, Liu X, Shu X, Matias-Florentino M, Buentello-Volante B, Boye SL, Cideciyan AV, Hauswirth WW, Jacobson SG. Dinculescu A, et al. Hum Gene Ther. 2012 Apr;23(4):367-76. doi: 10.1089/hum.2011.169. Epub 2012 Jan 26. Hum Gene Ther. 2012. PMID: 22142163 Free PMC article.
Mutational screening of FOXE3, GDF3, ATOH7, and ALDH1A3 in congenital ocular malformations. Possible contribution of the FOXE3 p.VAL201MET variant to the risk of severe eye malformations.
Garcia-Montalvo IA, Pelcastre-Luna E, Nelson-Mora J, Buentello-Volante B, Miranda-Duarte A, Zenteno JC. Garcia-Montalvo IA, et al. Ophthalmic Genet. 2014 Sep;35(3):190-2. doi: 10.3109/13816810.2014.903983. Epub 2014 Apr 1. Ophthalmic Genet. 2014. PMID: 24689660 No abstract available.
Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population.
Buentello-Volante B, Rodriguez-Ruiz G, Miranda-Duarte A, Pompa-Mera EN, Graue-Wiechers F, Bekker-Méndez C, Ayala-Ramirez R, Quezada C, Rodríguez-Loaiza JL, Zenteno JC. Buentello-Volante B, et al. Mol Vis. 2012;18:2518-25. Epub 2012 Oct 11. Mol Vis. 2012. PMID: 23112567 Free PMC article.
35 results